Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome
Shinji Takeyari(Minoh City Hospital), Keiichi Ozono(Osaka Gakuin University), Francis H. Glorieux(Shriners Hospitals for Children - Canada), Takehisa Yamamoto(Kyushu University), Kosei Hasegawa(Okayama University Hospital), Takuo Kubota(Osaka University Hospital), Yasuo Imanishi(Osaka City University), Taichi Kitaoka(Osaka University), Yuka Kinoshita(University of Tokyo Hospital), Toshimi Michigami(Osaka International Cancer Institute), Tsunesuke Shimotsuji(Minoh City Hospital), Seiji Fukumoto(Tokushima Hospital)
Cited by 74
Related Papers
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial
|The Lancet|2019|375
Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
|Calcified Tissue International|2019|160
Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype
|American Journal of Medical Genetics Part A|2013|148
X-Linked Hypophosphatemia and FGF23-Related Hypophosphatemic Diseases: Prospect for New Treatment
|Endocrine Reviews|2018|148
Activation of unliganded FGF receptor by extracellular phosphate potentiates proteolytic protection of FGF23 by its O-glycosylation
|Proceedings of the National Academy of Sciences|2019|147